HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA

General Information (adopted from Orphanet):

Synonyms, Signs: HH14
Number of Symptoms 13
OrphanetNr:
OMIM Id: 614858
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008689) Bilateral cryptorchidism 38 / 7739
2
(HPO:0008734) Decreased testicular size rare [HPO:skoehler] 105 / 7739
3
(HPO:0000786) Primary amenorrhea 61 / 7739
4
(HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
5
(HPO:0010632) Total anosmia 6 / 7739
6
(HPO:0000458) Anosmia rare [HPO:skoehler] 49 / 7739
7
(OMIM) Low or normal serum gonadotropins 3 / 7739
8
(OMIM) Low testosterone levels in males 2 / 7739
9
(OMIM) Absent or delayed puberty 11 / 7739
10
(OMIM) Patients have normal pituitary function 4 / 7739
11
(OMIM) Delayed or absent thelarche 5 / 7739
12
(OMIM) Low estradiol levels in females 3 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary ...
Molecular genetics OMIM Kim et al. (2010) screened 123 normosmic and hyposmic/anosmic HH patients for mutations in 3 candidate genes on chromosome 10q26, but identified no causative mutations. Sequencing a fourth candidate gene, WDR11 (606417), in 201 normosmic or hyposmic/anosmic HH ...